WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177251795_177251804del | CA2695205792 | NSD1 | c.3834_3843del (p.Glu1278AspfsTer2) n.4290_4299del c.4398_4407del (p.Glu1466AspfsTer2) n.4104_4113del n.4854_4863del c.4707_4716del (p.Glu1569AspfsTer2) c.3900_3909del (p.Glu1300AspfsTer2) c.201_210del (p.Glu67AspfsTer2) c.4287_4296del (p.Glu1429AspfsTer2) c.3651_3660del (p.Glu1217AspfsTer2) c.441_450del (p.Glu147AspfsTer2) | |
| 5 | g.177251793del | CA294900 | NSD1 | c.3832del (p.Glu1278SerfsTer5) n.4288del c.4396del (p.Glu1466SerfsTer5) n.4102del n.4852del c.4705del (p.Glu1569SerfsTer5) c.3898del (p.Glu1300SerfsTer5) c.199del (p.Glu67SerfsTer5) c.4285del (p.Glu1429SerfsTer5) c.3649del (p.Glu1217SerfsTer5) c.439del (p.Glu147SerfsTer5) | ClinVar dbSNP |
| 5 | g.177251793G>A | CA362351957 | NSD1 | c.3832G>A (p.Glu1278Lys) n.4288G>A c.4396G>A (p.Glu1466Lys) n.4102G>A n.4852G>A c.4705G>A (p.Glu1569Lys) c.3898G>A (p.Glu1300Lys) c.199G>A (p.Glu67Lys) c.4285G>A (p.Glu1429Lys) c.3649G>A (p.Glu1217Lys) c.439G>A (p.Glu147Lys) | |
| 5 | g.177251793G>C | CA362351963 | NSD1 | c.3832G>C (p.Glu1278Gln) n.4288G>C c.4396G>C (p.Glu1466Gln) n.4102G>C n.4852G>C c.4705G>C (p.Glu1569Gln) c.3898G>C (p.Glu1300Gln) c.199G>C (p.Glu67Gln) c.4285G>C (p.Glu1429Gln) c.3649G>C (p.Glu1217Gln) c.439G>C (p.Glu147Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177251793G= | CA1603529721 | NSD1 | c.3832G= (p.Glu1278=) n.4288G= c.4396G= (p.Glu1466=) n.4102G= n.4852G= c.4705G= (p.Glu1569=) c.3898G= (p.Glu1300=) c.199G= (p.Glu67=) c.4285G= (p.Glu1429=) c.3649G= (p.Glu1217=) c.439G= (p.Glu147=) | |
| 5 | g.177251793G>T | CA362351966 | NSD1 | c.3832G>T (p.Glu1278Ter) n.4288G>T c.4396G>T (p.Glu1466Ter) n.4102G>T n.4852G>T c.4705G>T (p.Glu1569Ter) c.3898G>T (p.Glu1300Ter) c.199G>T (p.Glu67Ter) c.4285G>T (p.Glu1429Ter) c.3649G>T (p.Glu1217Ter) c.439G>T (p.Glu147Ter) | |
| 5 | g.177251793_177251799del | CA2553824004 | NSD1 | c.3832_3838del (p.Glu1278LeufsTer3) n.4288_4294del c.4396_4402del (p.Glu1466LeufsTer3) n.4102_4108del n.4852_4858del c.4705_4711del (p.Glu1569LeufsTer3) c.3898_3904del (p.Glu1300LeufsTer3) c.199_205del (p.Glu67LeufsTer3) c.4285_4291del (p.Glu1429LeufsTer3) c.3649_3655del (p.Glu1217LeufsTer3) c.439_445del (p.Glu147LeufsTer3) | |
| 5 | g.177251794A>C | CA362351969 | NSD1 | c.3833A>C (p.Glu1278Ala) n.4289A>C c.4397A>C (p.Glu1466Ala) n.4103A>C n.4853A>C c.4706A>C (p.Glu1569Ala) c.3899A>C (p.Glu1300Ala) c.200A>C (p.Glu67Ala) c.4286A>C (p.Glu1429Ala) c.3650A>C (p.Glu1217Ala) c.440A>C (p.Glu147Ala) | |
| 5 | g.177251794A>G | CA362351983 | NSD1 | c.3833A>G (p.Glu1278Gly) n.4289A>G c.4397A>G (p.Glu1466Gly) n.4103A>G n.4853A>G c.4706A>G (p.Glu1569Gly) c.3899A>G (p.Glu1300Gly) c.200A>G (p.Glu67Gly) c.4286A>G (p.Glu1429Gly) c.3650A>G (p.Glu1217Gly) c.440A>G (p.Glu147Gly) | |
| 5 | g.177251794A>T | CA362351986 | NSD1 | c.3833A>T (p.Glu1278Val) n.4289A>T c.4397A>T (p.Glu1466Val) n.4103A>T n.4853A>T c.4706A>T (p.Glu1569Val) c.3899A>T (p.Glu1300Val) c.200A>T (p.Glu67Val) c.4286A>T (p.Glu1429Val) c.3650A>T (p.Glu1217Val) c.440A>T (p.Glu147Val) | |
| 5 | g.177251795G>A | CA3577692 | NSD1 | c.3834G>A (p.Glu1278=) n.4290G>A c.4398G>A (p.Glu1466=) n.4104G>A n.4854G>A c.4707G>A (p.Glu1569=) c.3900G>A (p.Glu1300=) c.201G>A (p.Glu67=) c.4287G>A (p.Glu1429=) c.3651G>A (p.Glu1217=) c.441G>A (p.Glu147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177251795G>C | CA362351998 | NSD1 | c.3834G>C (p.Glu1278Asp) n.4290G>C c.4398G>C (p.Glu1466Asp) n.4104G>C n.4854G>C c.4707G>C (p.Glu1569Asp) c.3900G>C (p.Glu1300Asp) c.201G>C (p.Glu67Asp) c.4287G>C (p.Glu1429Asp) c.3651G>C (p.Glu1217Asp) c.441G>C (p.Glu147Asp) | |
| 5 | g.177251795G= | CA1603529725 | NSD1 | c.3834G= (p.Glu1278=) n.4290G= c.4398G= (p.Glu1466=) n.4104G= n.4854G= c.4707G= (p.Glu1569=) c.3900G= (p.Glu1300=) c.201G= (p.Glu67=) c.4287G= (p.Glu1429=) c.3651G= (p.Glu1217=) c.441G= (p.Glu147=) | |
| 5 | g.177251795G>T | CA362352001 | NSD1 | c.3834G>T (p.Glu1278Asp) n.4290G>T c.4398G>T (p.Glu1466Asp) n.4104G>T n.4854G>T c.4707G>T (p.Glu1569Asp) c.3900G>T (p.Glu1300Asp) c.201G>T (p.Glu67Asp) c.4287G>T (p.Glu1429Asp) c.3651G>T (p.Glu1217Asp) c.441G>T (p.Glu147Asp) | COSMIC COSMIC |
| 5 | g.177251796T>A | CA362352016 | NSD1 | c.3835T>A (p.Cys1279Ser) n.4291T>A c.4399T>A (p.Cys1467Ser) n.4105T>A n.4855T>A c.4708T>A (p.Cys1570Ser) c.3901T>A (p.Cys1301Ser) c.202T>A (p.Cys68Ser) c.4288T>A (p.Cys1430Ser) c.3652T>A (p.Cys1218Ser) c.442T>A (p.Cys148Ser) | |
| 5 | g.177251796T>C | CA362352018 | NSD1 | c.3835T>C (p.Cys1279Arg) n.4291T>C c.4399T>C (p.Cys1467Arg) n.4105T>C n.4855T>C c.4708T>C (p.Cys1570Arg) c.3901T>C (p.Cys1301Arg) c.202T>C (p.Cys68Arg) c.4288T>C (p.Cys1430Arg) c.3652T>C (p.Cys1218Arg) c.442T>C (p.Cys148Arg) | |
| 5 | g.177251796T>G | CA362352015 | NSD1 | c.3835T>G (p.Cys1279Gly) n.4291T>G c.4399T>G (p.Cys1467Gly) n.4105T>G n.4855T>G c.4708T>G (p.Cys1570Gly) c.3901T>G (p.Cys1301Gly) c.202T>G (p.Cys68Gly) c.4288T>G (p.Cys1430Gly) c.3652T>G (p.Cys1218Gly) c.442T>G (p.Cys148Gly) | |
| 5 | g.177251797G>A | CA362352020 | NSD1 | c.3836G>A (p.Cys1279Tyr) n.4292G>A c.4400G>A (p.Cys1467Tyr) n.4106G>A n.4856G>A c.4709G>A (p.Cys1570Tyr) c.3902G>A (p.Cys1301Tyr) c.203G>A (p.Cys68Tyr) c.4289G>A (p.Cys1430Tyr) c.3653G>A (p.Cys1218Tyr) c.443G>A (p.Cys148Tyr) | dbSNP |
| 5 | g.177251797G>C | CA362352024 | NSD1 | c.3836G>C (p.Cys1279Ser) n.4292G>C c.4400G>C (p.Cys1467Ser) n.4106G>C n.4856G>C c.4709G>C (p.Cys1570Ser) c.3902G>C (p.Cys1301Ser) c.203G>C (p.Cys68Ser) c.4289G>C (p.Cys1430Ser) c.3653G>C (p.Cys1218Ser) c.443G>C (p.Cys148Ser) | ClinVar dbSNP |
| 5 | g.177251797G= | CA1603529730 | NSD1 | c.3836G= (p.Cys1279=) n.4292G= c.4400G= (p.Cys1467=) n.4106G= n.4856G= c.4709G= (p.Cys1570=) c.3902G= (p.Cys1301=) c.203G= (p.Cys68=) c.4289G= (p.Cys1430=) c.3653G= (p.Cys1218=) c.443G= (p.Cys148=) | |
| 5 | g.177251797G>T | CA362352031 | NSD1 | c.3836G>T (p.Cys1279Phe) n.4292G>T c.4400G>T (p.Cys1467Phe) n.4106G>T n.4856G>T c.4709G>T (p.Cys1570Phe) c.3902G>T (p.Cys1301Phe) c.203G>T (p.Cys68Phe) c.4289G>T (p.Cys1430Phe) c.3653G>T (p.Cys1218Phe) c.443G>T (p.Cys148Phe) | |
| 5 | g.177251798C>A | CA362352033 | NSD1 | c.3837C>A (p.Cys1279Ter) n.4293C>A c.4401C>A (p.Cys1467Ter) n.4107C>A n.4857C>A c.4710C>A (p.Cys1570Ter) c.3903C>A (p.Cys1301Ter) c.204C>A (p.Cys68Ter) c.4290C>A (p.Cys1430Ter) c.3654C>A (p.Cys1218Ter) c.444C>A (p.Cys148Ter) | dbSNP |
| 5 | g.177251798C>G | CA362352041 | NSD1 | c.3837C>G (p.Cys1279Trp) n.4293C>G c.4401C>G (p.Cys1467Trp) n.4107C>G n.4857C>G c.4710C>G (p.Cys1570Trp) c.3903C>G (p.Cys1301Trp) c.204C>G (p.Cys68Trp) c.4290C>G (p.Cys1430Trp) c.3654C>G (p.Cys1218Trp) c.444C>G (p.Cys148Trp) | |
| 5 | g.177251798C>T | CA447725908 | NSD1 | c.3837C>T (p.Cys1279=) n.4293C>T c.4401C>T (p.Cys1467=) n.4107C>T n.4857C>T c.4710C>T (p.Cys1570=) c.3903C>T (p.Cys1301=) c.204C>T (p.Cys68=) c.4290C>T (p.Cys1430=) c.3654C>T (p.Cys1218=) c.444C>T (p.Cys148=) | dbSNP |
| 5 | g.177251799C>A | CA362352044 | NSD1 | c.3838C>A (p.Leu1280Ile) n.4294C>A c.4402C>A (p.Leu1468Ile) n.4108C>A n.4858C>A c.4711C>A (p.Leu1571Ile) c.3904C>A (p.Leu1302Ile) c.205C>A (p.Leu69Ile) c.4291C>A (p.Leu1431Ile) c.3655C>A (p.Leu1219Ile) c.445C>A (p.Leu149Ile) | |
| 5 | g.177251799C= | CA1603529736 | NSD1 | c.3838C= (p.Leu1280=) n.4294C= c.4402C= (p.Leu1468=) n.4108C= n.4858C= c.4711C= (p.Leu1571=) c.3904C= (p.Leu1302=) c.205C= (p.Leu69=) c.4291C= (p.Leu1431=) c.3655C= (p.Leu1219=) c.445C= (p.Leu149=) | |
| 5 | g.177251799C>G | CA362352053 | NSD1 | c.3838C>G (p.Leu1280Val) n.4294C>G c.4402C>G (p.Leu1468Val) n.4108C>G n.4858C>G c.4711C>G (p.Leu1571Val) c.3904C>G (p.Leu1302Val) c.205C>G (p.Leu69Val) c.4291C>G (p.Leu1431Val) c.3655C>G (p.Leu1219Val) c.445C>G (p.Leu149Val) | |
| 5 | g.177251799C>T | CA362352057 | NSD1 | c.3838C>T (p.Leu1280Phe) n.4294C>T c.4402C>T (p.Leu1468Phe) n.4108C>T n.4858C>T c.4711C>T (p.Leu1571Phe) c.3904C>T (p.Leu1302Phe) c.205C>T (p.Leu69Phe) c.4291C>T (p.Leu1431Phe) c.3655C>T (p.Leu1219Phe) c.445C>T (p.Leu149Phe) | dbSNP |
| 5 | g.177251800T>A | CA362352059 | NSD1 | c.3839T>A (p.Leu1280His) n.4295T>A c.4403T>A (p.Leu1468His) n.4109T>A n.4859T>A c.4712T>A (p.Leu1571His) c.3905T>A (p.Leu1302His) c.206T>A (p.Leu69His) c.4292T>A (p.Leu1431His) c.3656T>A (p.Leu1219His) c.446T>A (p.Leu149His) | |
| 5 | g.177251800T>C | CA362352060 | NSD1 | c.3839T>C (p.Leu1280Pro) n.4295T>C c.4403T>C (p.Leu1468Pro) n.4109T>C n.4859T>C c.4712T>C (p.Leu1571Pro) c.3905T>C (p.Leu1302Pro) c.206T>C (p.Leu69Pro) c.4292T>C (p.Leu1431Pro) c.3656T>C (p.Leu1219Pro) c.446T>C (p.Leu149Pro) | |
| 5 | g.177251800T>G | CA362352062 | NSD1 | c.3839T>G (p.Leu1280Arg) n.4295T>G c.4403T>G (p.Leu1468Arg) n.4109T>G n.4859T>G c.4712T>G (p.Leu1571Arg) c.3905T>G (p.Leu1302Arg) c.206T>G (p.Leu69Arg) c.4292T>G (p.Leu1431Arg) c.3656T>G (p.Leu1219Arg) c.446T>G (p.Leu149Arg) | |
| 5 | g.177251801T>A | CA447725909 | NSD1 | c.3840T>A (p.Leu1280=) n.4296T>A c.4404T>A (p.Leu1468=) n.4110T>A n.4860T>A c.4713T>A (p.Leu1571=) c.3906T>A (p.Leu1302=) c.207T>A (p.Leu69=) c.4293T>A (p.Leu1431=) c.3657T>A (p.Leu1219=) c.447T>A (p.Leu149=) | |
| 5 | g.177251801T>C | CA447725910 | NSD1 | c.3840T>C (p.Leu1280=) n.4296T>C c.4404T>C (p.Leu1468=) n.4110T>C n.4860T>C c.4713T>C (p.Leu1571=) c.3906T>C (p.Leu1302=) c.207T>C (p.Leu69=) c.4293T>C (p.Leu1431=) c.3657T>C (p.Leu1219=) c.447T>C (p.Leu149=) | |
| 5 | g.177251801T>G | CA447725911 | NSD1 | c.3840T>G (p.Leu1280=) n.4296T>G c.4404T>G (p.Leu1468=) n.4110T>G n.4860T>G c.4713T>G (p.Leu1571=) c.3906T>G (p.Leu1302=) c.207T>G (p.Leu69=) c.4293T>G (p.Leu1431=) c.3657T>G (p.Leu1219=) c.447T>G (p.Leu149=) | |
| 5 | g.177251802G>A | CA362352069 | NSD1 | c.3841G>A (p.Gly1281Arg) n.4297G>A c.4405G>A (p.Gly1469Arg) n.4111G>A n.4861G>A c.4714G>A (p.Gly1572Arg) c.3907G>A (p.Gly1303Arg) c.208G>A (p.Gly70Arg) c.4294G>A (p.Gly1432Arg) c.3658G>A (p.Gly1220Arg) c.448G>A (p.Gly150Arg) | dbSNP |
| 5 | g.177251802G>C | CA362352068 | NSD1 | c.3841G>C (p.Gly1281Arg) n.4297G>C c.4405G>C (p.Gly1469Arg) n.4111G>C n.4861G>C c.4714G>C (p.Gly1572Arg) c.3907G>C (p.Gly1303Arg) c.208G>C (p.Gly70Arg) c.4294G>C (p.Gly1432Arg) c.3658G>C (p.Gly1220Arg) c.448G>C (p.Gly150Arg) | |
| 5 | g.177251802G>T | CA362352067 | NSD1 | c.3841G>T (p.Gly1281Ter) n.4297G>T c.4405G>T (p.Gly1469Ter) n.4111G>T n.4861G>T c.4714G>T (p.Gly1572Ter) c.3907G>T (p.Gly1303Ter) c.208G>T (p.Gly70Ter) c.4294G>T (p.Gly1432Ter) c.3658G>T (p.Gly1220Ter) c.448G>T (p.Gly150Ter) | |
| 5 | g.177251802_177251809del | CA2528959758 | NSD1 | c.3841_3848del (p.Gly1281Ter) n.4297_4304del c.4405_4412del (p.Gly1469Ter) n.4111_4118del n.4861_4868del c.4714_4721del (p.Gly1572Ter) c.3907_3914del (p.Gly1303Ter) c.208_215del (p.Gly70Ter) c.4294_4301del (p.Gly1432Ter) c.3658_3665del (p.Gly1220Ter) c.448_455del (p.Gly150Ter) | |
| 5 | g.177251803G>A | CA362352070 | NSD1 | c.3842G>A (p.Gly1281Glu) n.4298G>A c.4406G>A (p.Gly1469Glu) n.4112G>A n.4862G>A c.4715G>A (p.Gly1572Glu) c.3908G>A (p.Gly1303Glu) c.209G>A (p.Gly70Glu) c.4295G>A (p.Gly1432Glu) c.3659G>A (p.Gly1220Glu) c.449G>A (p.Gly150Glu) | ClinVar |
| 5 | g.177251803G>C | CA362352072 | NSD1 | c.3842G>C (p.Gly1281Ala) n.4298G>C c.4406G>C (p.Gly1469Ala) n.4112G>C n.4862G>C c.4715G>C (p.Gly1572Ala) c.3908G>C (p.Gly1303Ala) c.209G>C (p.Gly70Ala) c.4295G>C (p.Gly1432Ala) c.3659G>C (p.Gly1220Ala) c.449G>C (p.Gly150Ala) | |
| 5 | g.177251803G>T | CA362352074 | NSD1 | c.3842G>T (p.Gly1281Val) n.4298G>T c.4406G>T (p.Gly1469Val) n.4112G>T n.4862G>T c.4715G>T (p.Gly1572Val) c.3908G>T (p.Gly1303Val) c.209G>T (p.Gly70Val) c.4295G>T (p.Gly1432Val) c.3659G>T (p.Gly1220Val) c.449G>T (p.Gly150Val) | |
| 5 | g.177251804A>C | CA447725913 | NSD1 | c.3843A>C (p.Gly1281=) n.4299A>C c.4407A>C (p.Gly1469=) n.4113A>C n.4863A>C c.4716A>C (p.Gly1572=) c.3909A>C (p.Gly1303=) c.210A>C (p.Gly70=) c.4296A>C (p.Gly1432=) c.3660A>C (p.Gly1220=) c.450A>C (p.Gly150=) | |
| 5 | g.177251804A>G | CA447725914 | NSD1 | c.3843A>G (p.Gly1281=) n.4299A>G c.4407A>G (p.Gly1469=) n.4113A>G n.4863A>G c.4716A>G (p.Gly1572=) c.3909A>G (p.Gly1303=) c.210A>G (p.Gly70=) c.4296A>G (p.Gly1432=) c.3660A>G (p.Gly1220=) c.450A>G (p.Gly150=) | gnomAD v4 |
| 5 | g.177251804A>T | CA447725912 | NSD1 | c.3843A>T (p.Gly1281=) n.4299A>T c.4407A>T (p.Gly1469=) n.4113A>T n.4863A>T c.4716A>T (p.Gly1572=) c.3909A>T (p.Gly1303=) c.210A>T (p.Gly70=) c.4296A>T (p.Gly1432=) c.3660A>T (p.Gly1220=) c.450A>T (p.Gly150=) | |
| 5 | g.177251805T>A | CA362352078 | NSD1 | c.3844T>A (p.Leu1282Met) n.4300T>A c.4408T>A (p.Leu1470Met) n.4114T>A n.4864T>A c.4717T>A (p.Leu1573Met) c.3910T>A (p.Leu1304Met) c.211T>A (p.Leu71Met) c.4297T>A (p.Leu1433Met) c.3661T>A (p.Leu1221Met) c.451T>A (p.Leu151Met) | |
| 5 | g.177251805T>C | CA447725915 | NSD1 | c.3844T>C (p.Leu1282=) n.4300T>C c.4408T>C (p.Leu1470=) n.4114T>C n.4864T>C c.4717T>C (p.Leu1573=) c.3910T>C (p.Leu1304=) c.211T>C (p.Leu71=) c.4297T>C (p.Leu1433=) c.3661T>C (p.Leu1221=) c.451T>C (p.Leu151=) | |
| 5 | g.177251805T>G | CA362352082 | NSD1 | c.3844T>G (p.Leu1282Val) n.4300T>G c.4408T>G (p.Leu1470Val) n.4114T>G n.4864T>G c.4717T>G (p.Leu1573Val) c.3910T>G (p.Leu1304Val) c.211T>G (p.Leu71Val) c.4297T>G (p.Leu1433Val) c.3661T>G (p.Leu1221Val) c.451T>G (p.Leu151Val) | |
| 5 | g.177251806T>A | CA362352084 | NSD1 | c.3845T>A (p.Leu1282Ter) n.4301T>A c.4409T>A (p.Leu1470Ter) n.4115T>A n.4865T>A c.4718T>A (p.Leu1573Ter) c.3911T>A (p.Leu1304Ter) c.212T>A (p.Leu71Ter) c.4298T>A (p.Leu1433Ter) c.3662T>A (p.Leu1221Ter) c.452T>A (p.Leu151Ter) | |
| 5 | g.177251806T>C | CA362352085 | NSD1 | c.3845T>C (p.Leu1282Ser) n.4301T>C c.4409T>C (p.Leu1470Ser) n.4115T>C n.4865T>C c.4718T>C (p.Leu1573Ser) c.3911T>C (p.Leu1304Ser) c.212T>C (p.Leu71Ser) c.4298T>C (p.Leu1433Ser) c.3662T>C (p.Leu1221Ser) c.452T>C (p.Leu151Ser) | |
| 5 | g.177251806T>G | CA362352086 | NSD1 | c.3845T>G (p.Leu1282Trp) n.4301T>G c.4409T>G (p.Leu1470Trp) n.4115T>G n.4865T>G c.4718T>G (p.Leu1573Trp) c.3911T>G (p.Leu1304Trp) c.212T>G (p.Leu71Trp) c.4298T>G (p.Leu1433Trp) c.3662T>G (p.Leu1221Trp) c.452T>G (p.Leu151Trp) |